A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

Neuromuscular Disorders

Volumn 22, Issue 8, 2012, Pages 735-741

  Vital, Anne ^a,b   Latour, Philippe ^c   Sole, Guilhem ^a,b   Ferrer, Xavier ^a,b   Rouanet, Marie ^b   Tison, François ^a,b   Vital, Claude ^a   Goizet, Cyril ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

Ganglioside induced differentiation associated protein 1; Mitofusin 2; Peripheral neuropathy

Indexed keywords

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; DEMYELINATION; FAMILIAL DISEASE; FEMALE; FRANCE; GDAP1 GENE; GENE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MFN2 GENE; MITOCHONDRION; NERVE BIOPSY; NERVE FIBER DEGENERATION; NEUROPATHY; NUCLEOTIDE SEQUENCE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; WALKING DIFFICULTY;

ADULT; AGED; BIOPSY; CHARCOT-MARIE-TOOTH DISEASE; CHILD, PRESCHOOL; FEMALE; FRANCE; GTP PHOSPHOHYDROLASES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PERONEAL NERVE; PHENOTYPE;

EID: 84863864231     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.04.001     Document Type: Article

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